Incidental Mutation 'IGL01140:Ssx2ip'
ID50794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssx2ip
Ensembl Gene ENSMUSG00000036825
Gene Namesynovial sarcoma, X 2 interacting protein
SynonymsAdip
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01140
Quality Score
Status
Chromosome3
Chromosomal Location146404642-146440144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146427843 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 231 (Y231C)
Ref Sequence ENSEMBL: ENSMUSP00000101759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039021] [ENSMUST00000106149] [ENSMUST00000106151] [ENSMUST00000106153]
Predicted Effect probably benign
Transcript: ENSMUST00000039021
AA Change: Y231C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106149
AA Change: Y231C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106151
AA Change: Y231C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106153
AA Change: Y231C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:ADIP 63 214 1.2e-47 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 410 N/A INTRINSIC
low complexity region 426 436 N/A INTRINSIC
Blast:LPD_N 440 481 3e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141103
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,524,867 E187G probably damaging Het
Asap2 T C 12: 21,206,316 V205A probably damaging Het
Atg16l1 A G 1: 87,774,853 I279V probably benign Het
Atp2b2 C T 6: 113,789,971 V436I possibly damaging Het
Cald1 T A 6: 34,762,261 S640T possibly damaging Het
Cdc23 A G 18: 34,636,332 Y460H probably benign Het
Cenpk T A 13: 104,236,234 probably benign Het
Ctss A G 3: 95,538,725 E52G probably damaging Het
Cuzd1 A T 7: 131,311,794 C365S probably damaging Het
Cyp2c55 T C 19: 39,018,649 L163P probably benign Het
Cyp4f37 T C 17: 32,629,053 S182P probably benign Het
Flt4 G T 11: 49,634,943 E740* probably null Het
Galntl6 T A 8: 57,958,322 R291S probably damaging Het
Hydin G A 8: 110,398,062 V568I probably benign Het
Kcnab3 A G 11: 69,329,879 K145R probably benign Het
Lama1 T C 17: 67,802,933 V2183A probably benign Het
Lrmda C T 14: 22,596,517 A75V possibly damaging Het
Mbtd1 A G 11: 93,924,432 E282G probably damaging Het
Muc19 A T 15: 91,899,399 noncoding transcript Het
Mug1 A G 6: 121,882,734 T1231A probably benign Het
Nkpd1 A G 7: 19,523,462 T389A possibly damaging Het
Nudt19 A G 7: 35,547,911 *358Q probably null Het
Nup160 G T 2: 90,700,565 M522I possibly damaging Het
Obsl1 T A 1: 75,489,756 probably benign Het
Olfr1475 G A 19: 13,479,787 T137I possibly damaging Het
Olfr734 T A 14: 50,320,275 I187F probably damaging Het
Olfr994 T C 2: 85,430,140 T230A probably benign Het
Osbpl10 C T 9: 115,176,002 P341S probably benign Het
Papola C A 12: 105,809,597 C7* probably null Het
Pld1 C A 3: 28,078,237 L525I probably benign Het
Prom2 T C 2: 127,531,205 probably benign Het
Psmb5 G A 14: 54,617,807 T62I possibly damaging Het
Sag A G 1: 87,823,364 E184G probably benign Het
Slc16a10 T C 10: 40,076,925 Y191C probably damaging Het
Slc22a22 T C 15: 57,263,338 T93A probably damaging Het
Trib1 A G 15: 59,651,627 Y170C probably damaging Het
Trmt10a G A 3: 138,156,698 probably benign Het
Troap G T 15: 99,082,146 Q402H probably damaging Het
Ttc30a1 A G 2: 75,979,915 V608A probably benign Het
Vmn2r70 G A 7: 85,565,171 Q258* probably null Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Zmym1 A G 4: 127,049,642 F318L probably damaging Het
Zswim2 A G 2: 83,915,328 S589P probably benign Het
Other mutations in Ssx2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Ssx2ip APN 3 146436552 missense probably damaging 1.00
IGL01810:Ssx2ip APN 3 146428010 missense probably benign 0.00
R0432:Ssx2ip UTSW 3 146426429 missense probably damaging 1.00
R0903:Ssx2ip UTSW 3 146430977 missense probably benign
R2228:Ssx2ip UTSW 3 146417776 missense probably damaging 0.98
R3151:Ssx2ip UTSW 3 146418383 missense probably benign 0.00
R4348:Ssx2ip UTSW 3 146432490 missense probably benign 0.01
R4446:Ssx2ip UTSW 3 146426431 missense probably benign 0.31
R4796:Ssx2ip UTSW 3 146418359 missense probably benign 0.02
R5054:Ssx2ip UTSW 3 146430917 splice site probably benign
R5338:Ssx2ip UTSW 3 146436541 critical splice acceptor site probably null
R5520:Ssx2ip UTSW 3 146437311 missense probably benign 0.03
R5898:Ssx2ip UTSW 3 146427831 missense possibly damaging 0.94
R6367:Ssx2ip UTSW 3 146419166 missense probably benign 0.16
R6777:Ssx2ip UTSW 3 146438721 missense possibly damaging 0.88
R7082:Ssx2ip UTSW 3 146430948 missense probably benign 0.01
R7239:Ssx2ip UTSW 3 146428016 missense probably damaging 1.00
R7249:Ssx2ip UTSW 3 146426438 missense possibly damaging 0.81
Posted On2013-06-21